Canonical Allele Identifier: CA746611237
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1216811450
gnomAD v3: 20-6770066-A-AG
gnomAD v4: 20-6770066-A-AG
MyVariant Identifiers: chr20:g.6750713_6750714insG (hg19) chr20:g.6770066_6770067insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770072dup , CM000682.2:g.6770072dup GRCh38
NC_000020.10:g.6750719dup , CM000682.1:g.6750719dup GRCh37
NC_000020.9:g.6698719dup NCBI36
NG_023233.1:g.6975dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.-7-48dup MANE Select ENSP00000368104.3:n.-7-48dup
ENST00000378827.4:c.-7-48dup ENSP00000368104.3:n.-7-48dup
NM_001200.2:c.-7-48dup NP_001191.1:n.-7-48dup
XM_011529323.1:c.-123+1197dup XP_011527625.1:n.-123+1197dup
NM_001200.3:c.-7-48dup NP_001191.1:n.-7-48dup
NM_001200.4:c.-7-48dup MANE Select NP_001191.1:n.-7-48dup
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